Newly Developed Compounds Activate Silenced Gene Responsible for Debilitating Disease
La Jolla, CA — A team from The Scripps Research Institute and the University of California School of Medicine has developed compounds that reactivate the gene responsible for the neurodegenerative disease Friedreich's ataxia, offering hope for an effective treatment for this devastating and often deadly condition.
The results of the research are being published on August 20 in an advanced, online version of the journal Nature Chemical Biology.
In the new study, the researchers tested a variety of compounds that inhibited a class of enzymes known as histone deacetylases in a cell line derived from blood cells from a Fredreich’s ataxia sufferer. One of these inhibitors had the effect of reactivating the frataxin gene, which is silenced in those with the disease. The researchers then went on to improve on this molecule by synthesis of novel derivatives, identifying compounds that would reactivate the frataxin gene in blood cells taken from 13 Friedreich’s ataxia patients.